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Partial Loss of Desmin Expression Due to a Leaky Splice Site Variant in the Human DES Gene is Associated with Neuromuscular Transmission Defects

Kiran Polavarapu, Daniel O'Neil,Rachel Thompson,Sally Spendiff,Bevinahalli Nandeesh,Seena Vengalil,Akshata Huddar,Dipti Baskar,Gautham Arunachal,Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu,Leslie Matalonga,Ana Topf,Steven Laurie, Joshua Zeldin,Saraswati Nashi,Gopikrishnan Unnikrishnan,Atchayaram Nalini,Hanns Lochmueller

Neuromuscular Disorders（2024）

Cited 0|Views23
Key words
Desmin,Congenital myasthenic syndrome,Neuromuscular junction,Leaky splice site,Intron retention,Myofibrillar myopathy
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